Canonical Allele Identifier: CA1876868374
Gene: C5 HGNC NCBI

Linked Data

dbSNP Id: rs2046890402

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120969055_120969058del , CM000671.2:g.120969055_120969058del GRCh38
NC_000009.11:g.123731333_123731336del , CM000671.1:g.123731333_123731336del GRCh37
NC_000009.10:g.122771154_122771157del NCBI36
NG_007364.1:g.86219_86222del , LRG_28:g.86219_86222del

Transcript Alleles

HGVS Amino-acid change
ENST00000480188.2:n.1254+3_1254+6del
ENST00000696279.1:c.4540+3_4540+6del
ENST00000696280.1:n.4309+3_4309+6del
ENST00000696281.1:c.4238+3_4238+6del ENSP00000512521.1:n.4238+3_4238+6del
ENST00000697921.1:n.3098+3_3098+6del
ENST00000697922.1:c.*4210+3_*4210+6del ENSP00000513478.1:n.*4210+3_*4210+6del
ENST00000697923.1:n.4665+3_4665+6del
ENST00000223642.3:c.4220+3_4220+6del MANE Select ENSP00000223642.1:n.4220+3_4220+6del
ENST00000223642.2:c.4220+3_4220+6del ENSP00000223642.1:n.4220+3_4220+6del
NM_001735.2:c.4220+3_4220+6del , LRG_28t1:c.4220+3_4220+6del NP_001726.2:n.4220+3_4220+6del
XM_011518980.1:c.4235+3_4235+6del XP_011517282.1:n.4235+3_4235+6del
NM_001317163.1:c.4238+3_4238+6del NP_001304092.1:n.4238+3_4238+6del
NM_001317163.2:c.4238+3_4238+6del NP_001304092.1:n.4238+3_4238+6del
NM_001735.3:c.4220+3_4220+6del MANE Select NP_001726.2:n.4220+3_4220+6del